Summary
A 2-year-old boy with an early onset and severe form of Cockayne's syndrome (CS) showed differences from the common CS form, which made the clinical diagnosis difficult. However, the cellular characteristics of CS, that the patient's skin fibroblasts exhibited the hypersensitivity to the lethal effect of 254 nm ultraviolet light (UV) and a defective recovery of post-UV DNA synthesis, but normal level of UV-induced unscheduled DNA synthesis, were observed. The magnetic resonance imaging (MRI) by the inversion-recovery method of the brain at age of 26 months showed atrophy or poor development of high signal images of the white matter. The MRI spin-echo image showed a low signal image of the lenticular nucleus. The T1 and T2 values of the cerebrum (grey matter, white matter, lenticular nucleus and thalamus) were greater than those of the age-matched controls, but similar to infant brains with much free water. Such MRI findings may suggest hypomyelination leading to the severe atrophy of the brain in this CS patient. His severe symptoms progressed rapidly until his death at 35 months due to systemic sepsis and renal dysfunction. Autopsy revealed severe microcephaly, severe atrophy of cerebrum, cerebellum and brain stem, and calcification throughout the brain, especially in the basal ganglia. Myelin staining showed numerous patchy losses of myelination in the cortical white matter.
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Nishio, H., Kodama, S., Matsuo, T. et al. Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 11, 88–102 (1988). https://doi.org/10.1007/BF01800059
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DOI: https://doi.org/10.1007/BF01800059